What is Danon Disease?
Danon Disease is a rare, genetically inherited disease that affects the muscles and multiple organ systems throughout the body. It arises from a defect in the gene, LAMP2, which is carried on certain sex chromosomes, and thus this disease can be passed from parents to children. Due to the nature of this gene and its importance in the functioning of normal cells, inheriting just one copy of the defective gene is sufficient to cause significant problems throughout the body. Patients with Danon Disease often complain of muscle pains, liver and digestive problems, poor vision, and learning difficulties early in their childhood development. Eventually, most of the patients are hospitalized for the progressive failure of their heart to function adequately relative to their physiological needs. Although the disease is considered quite rare and remains largely unknown even among medical professionals, the impact of the disease can be quite devastating in the affected families.
In the lab:
The focus of our laboratory is the understanding of how mutations in LAMP-2 (the gene that is abnormal in Danon disease) affect the heart. To explore this question we are using stem cells we derive from patients as well as mice that have been created to mimic the disease. Our work has led to the discovery of several promising avenues of research and is currently supported by both grants and philanthropic support.
In the clinic: The paucity of information and lack of treatments has left many Danon patients searching for answers; here at UCSD, we hope to offer a response. The Danon Research Team is working diligently to bring to light a clearer picture and more comprehensive understanding of the natural history and progression of Danon Disease. Rare diseases such as Danon Disease are often poorly understood, and a natural history study is necessary for drug and therapy development and critical in the designing of an effective clinical program. Currently, we are receiving the participation and support from scores of patients and families affected by Danon disease all around the world. Participants provide us with access to their medical records and the Danon Research Team compiles all the relevant data, further adding to our understanding of the natural history and course of the disease. The first phase of the study, participants complete a questionnaire and interview that address possible characteristics and manifestations of Danon Disease. In the second phase, participants are invited to meet with multidisciplinary specialists in cardiology, neurology, and ophthalmology, who will provide an expert clinical evaluation.